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Gene: KCNE1 & Disease: LQT1, 702 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
13479	KCNE1	c.253G>A	p.Asp85Asn (p.D85N)	NM_000219.6 M	SNV	P	6 +	36
	KCNE1	c.253G>A	p.Asp85Asn (p.D85N)	NM_001127668.4	SNV	P	6 +	36
	KCNE1	c.253G>A	p.Asp85Asn (p.D85N)	NM_001127669.4	SNV	P	6 +	36
	KCNE1	c.253G>A	p.Asp85Asn (p.D85N)	NM_001127670.4	SNV	P	6 +	36
	KCNE1	c.253G>A	p.Asp85Asn (p.D85N)	NM_001270402.3	SNV	P	6 +	36
	KCNE1	c.253G>A	p.Asp85Asn (p.D85N)	NM_001270403.2	SNV	P	6 +	36
	KCNE1	c.253G>A	p.Asp85Asn (p.D85N)	NM_001270404.3	SNV	P	6 +	36
	KCNE1	c.253G>A	p.Asp85Asn (p.D85N)	NM_001270405.3	SNV	P	6 +	36
13477	KCNE1	c.226G>A	p.Asp76Asn (p.D76N)	NM_000219.6 M	SNV	P	9 +	33
	KCNE1	c.226G>A	p.Asp76Asn (p.D76N)	NM_001127668.4	SNV	P	9 +	33
	KCNE1	c.226G>A	p.Asp76Asn (p.D76N)	NM_001127669.4	SNV	P	9 +	33
	KCNE1	c.226G>A	p.Asp76Asn (p.D76N)	NM_001127670.4	SNV	P	9 +	33
	KCNE1	c.226G>A	p.Asp76Asn (p.D76N)	NM_001270402.3	SNV	P	9 +	33
	KCNE1	c.226G>A	p.Asp76Asn (p.D76N)	NM_001270403.2	SNV	P	9 +	33
	KCNE1	c.226G>A	p.Asp76Asn (p.D76N)	NM_001270404.3	SNV	P	9 +	33
	KCNE1	c.226G>A	p.Asp76Asn (p.D76N)	NM_001270405.3	SNV	P	9 +	33
132670	KCNE1	c.23C>T	p.Ala8Val (p.A8V)	NM_000219.6 M	SNV	VUS	5 +	18
	KCNE1	c.23C>T	p.Ala8Val (p.A8V)	NM_001127668.4	SNV	VUS	5 +	18
	KCNE1	c.23C>T	p.Ala8Val (p.A8V)	NM_001127669.4	SNV	VUS	5 +	18
	KCNE1	c.23C>T	p.Ala8Val (p.A8V)	NM_001127670.4	SNV	VUS	5 +	18

702 Results, 20 per Page

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